EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
NCT ID: NCT01793090 Phase: PHASE2 Status: COMPLETED Enrollment: 30 Completion: 2017-02
Conditions
Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease, Retinopathy
Interventions
Epi-743, Placebo supplementation
Summary
The aim of the research is to investigate the safety and efficacy of EPI-743 treatment in patients with Cbl-C defect and related visual and neurological impairment. Primary Endpoints will be the improvement in visual function as assessed by visual acuity and eye-hand coordination and manual dexterity. Secondary Endpoints will be the improvement in neurologic function, evaluated by a battery of age-appropriated psychophysical tests, and/or in objective electrophysiological tests such as Visual Evoked potentials (VEP) and Electroretinogram (ERG) and/or the change in serum markers of redox state.
Primary Outcome
Change in Visual Function